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Nature genetics, ISSN 1546-1718, 2010, Volume 43, Issue 1, pp. 72 - 78
Journal Article
American journal of human genetics, ISSN 0002-9297, 2017, Volume 100, Issue 1, pp. 160 - 168
.... This result has clinical and genetic counseling implications for genetically unsolved male case subjects with a classic PCD phenotype that lack additional phenotypes such as intellectual disability or retinitis pigmentosa. 
Dyneins - metabolism | Cilia - pathology | Sperm Motility - genetics | Humans | Cytoplasm - metabolism | Male | Mutation - genetics | Cilia - metabolism | Sperm Tail - metabolism | Phenotype | Ciliary Motility Disorders - pathology | Genes, X-Linked | Sperm Tail - pathology | Pedigree | Female | Ciliary Motility Disorders - metabolism | Ciliary Motility Disorders - genetics | Causes of | Genetic aspects | Gene mutations | Health aspects | Movement disorders | Report
Journal Article
Nature genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 262 - 268
..., which is a genetically heterogeneous group of recessive disorders characterized by defects in ciliary motility (1). Individuals with PCD suffer from chronic destructive airway... 
ASYMMETRY | DEFECTS | MUTANTS | DYSKINESIA | GENETICS & HEREDITY | ARMS | RADIAL SPOKES | MUTATIONS | CHLAMYDOMONAS-FLAGELLA | IDENTIFICATION | INNER | Axoneme - metabolism | Microtubule-Associated Proteins - genetics | Axonemal Dyneins - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Axonemal Dyneins - genetics | Molecular Sequence Data | Male | Kartagener Syndrome - genetics | Chlamydomonas - metabolism | Axoneme - genetics | Chlamydomonas - ultrastructure | Sperm Tail - metabolism | Axonemal Dyneins - ultrastructure | Plasminogen Activator Inhibitor 1 - metabolism | Axoneme - ultrastructure | Chlamydomonas - genetics | Algal Proteins - genetics | Cilia - ultrastructure | Plasminogen Activator Inhibitor 1 - genetics | Amino Acid Sequence | Cytoskeleton - genetics | Kartagener Syndrome - physiopathology | Cilia - metabolism | Cilia - genetics | Carrier Proteins - genetics | Ciliary Motility Disorders - pathology | Sperm Tail - ultrastructure | Cytoskeleton - metabolism | Kartagener Syndrome - metabolism | Mutation | Ciliary Motility Disorders - genetics | Genetic disorders | Gene mutations | Dynein | Physiological aspects | Genetic aspects | Research | Health aspects | Genetic screening | Motility | Genes | Algae | Cloning | Colleges & universities | Genomes | Molecular weight | Defects | Proteins | Databases | Microscopy | Proteomics | Mass spectrometry | Clinical Medicine | Oto-rhino-laryngologi | Medical and Health Sciences | Medicin och hälsovetenskap | Otorhinolaryngology | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
Journal Article
Nature communications, ISSN 2041-1723, 07/2014, Volume 5, Issue 1, p. 4418
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2011, Volume 364, Issue 16, pp. 1533 - 1543
Journal Article
American journal of human genetics, ISSN 0002-9297, 2019, Volume 104, Issue 2, pp. 229 - 245
Journal Article
PLoS genetics, ISSN 1553-7404, 2013, Volume 9, Issue 12, p. e1003977
Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions... 
COMPLEX | CAENORHABDITIS-ELEGANS | TRANSITION ZONE | ARL13B | SIGNALING PROTEINS | GENETICS & HEREDITY | TRAFFICKING | C-ELEGANS | CILIOGENESIS | SENSORY CILIA | INTRAFLAGELLAR TRANSPORT | Polycystic Kidney Diseases - genetics | Cytoskeletal Proteins - genetics | Humans | Biological Transport, Active - genetics | Cerebellum - abnormalities | Membranes - metabolism | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Cerebellar Diseases - pathology | Bardet-Biedl Syndrome - pathology | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Cytoskeletal Proteins - metabolism | ADP-Ribosylation Factors - metabolism | ADP-Ribosylation Factors - genetics | Encephalocele - genetics | Caenorhabditis elegans - metabolism | Caenorhabditis elegans - genetics | Abnormalities, Multiple | Transcription Factors - genetics | Eye Abnormalities - genetics | Cilia - metabolism | Cilia - genetics | Kidney Diseases, Cystic - pathology | Transcription Factors - metabolism | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Ciliary Motility Disorders - genetics | Cilia and ciliary motion | Biological transport, Active | Joubert syndrome | Physiological aspects | Genetic research | Genetic aspects | Research | Health aspects | Proteins | Studies | Genotype & phenotype | Membranes | Motility | Peptides | Proteomics | Diffusion | Experiments
Journal Article